Disease

primary ciliary dyskinesia 27

Definition
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13.
Synonyms
  • CILD27
  • primary ciliary dyskinesia 27 without situs inversus
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

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Associated Models